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Table 1 ATM gene variants detected in controls and breast cancer patients

From: ATM gene mutations in sporadic breast cancer patients from Brazil

Position Exon/Intron Nucleotide change Residue Variation type Functional impact*
7 c.378 T > A p.D126E Non-Synonymous Neutral
7 c.1287-18delT N/A Non-coding -
9 c.735C > T p.V245V Synonymous Neutral
13 c.1744 T > C p.F582L Non-Synonymous Neutral
15 c.2119 T > C p.S707P Non-Synonymous Neutral
16 c.2193C > T p.Y731Y Synonymous Neutral
18 c.2442C > A p.D814E Non-Synonymous Neutral
19 c.2572 T > C p.F858L Non-Synonymous Damaging
20 c.2685A > G p.L895L Synonymous Neutral
20 c.2805G > C p.T935T Synonymous Neutral
23 c.3118A > G p.M1040V Non-Synonymous Neutral
24 c.3161C > G p.P1054R Non-Synonymous Damaging
32 c.4578C > T p.P1526P Synonymous Neutral
39 c.5557G > A p.D1853N Non-Synonymous Neutral
55 c.8536 + 13insT N/A Non-coding -
56 c.8653 + 30insT N/A Non-coding -
62 c.9372 + 8A > C N/A Non-coding -
  1. http://genetics.bwh.harvard.edu/pph2/; http://provean.jcvi.org/genome_submit_2.php;
  2. http://chromium.liacs.nl/LOVD2/home.php?select_db=ATM (Last update January 2012); http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?geneId=472; http://www.ensembl.org/Homo_sapiens/Gene/Variation_Gene/Table?db=core;g=ENSG00000149311;r=11:108093211–108239829; * http://www.1000genomes.org/1000-genomes-browsers; http://evs.gs.washington.edu/EVS/.